Canonical Allele Identifier: CA3026142

Gene: NFKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102596221G>C , CM000666.2:g.102596221G>C	GRCh38
NC_000004.11:g.103517378G>C , CM000666.1:g.103517378G>C	GRCh37
NC_000004.10:g.103736416G>C	NCBI36
NG_050628.1:g.99893G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003998.4:c.1384G>C MANE Select	NP_003989.2:p.Val462Leu
ENST00000226574.9:c.1384G>C MANE Select	ENSP00000226574.4:p.Val462Leu
NM_001165412.1:c.1381G>C	NP_001158884.1:p.Val461Leu
NM_001165412.2:c.1381G>C	NP_001158884.1:p.Val461Leu
NM_001319226.1:c.1381G>C	NP_001306155.1:p.Val461Leu
NM_001319226.2:c.1381G>C	NP_001306155.1:p.Val461Leu
NM_001382625.1:c.1384G>C	NP_001369554.1:p.Val462Leu
NM_001382626.1:c.1384G>C	NP_001369555.1:p.Val462Leu
NM_001382627.1:c.1381G>C	NP_001369556.1:p.Val461Leu
NM_001382628.1:c.1342G>C	NP_001369557.1:p.Val448Leu
NM_003998.3:c.1384G>C	NP_003989.2:p.Val462Leu
ENST00000226574.8:c.1384G>C	ENSP00000226574.4:p.Val462Leu
ENST00000394820.8:c.1381G>C	ENSP00000378297.4:p.Val461Leu
ENST00000504044.1:n.494G>C
ENST00000505458.5:c.1381G>C	ENSP00000424790.1:p.Val461Leu
ENST00000507079.6:c.1408G>C	ENSP00000426147.2:p.Val470Leu
ENST00000509165.2:c.1384G>C	ENSP00000423877.2:p.Val462Leu
ENST00000600343.5:c.841G>C	ENSP00000469340.1:p.Val281Leu
ENST00000652569.1:c.1360G>C
ENST00000652619.1:c.1405G>C	ENSP00000499031.1:p.Val469Leu
ENST00000697794.1:c.*1025G>C	ENSP00000513443.1:n.*1025G>C
ENST00000697799.1:n.881G>C
ENST00000697800.1:n.523G>C
XM_011532006.1:c.1405G>C	XP_011530308.1:p.Val469Leu
XM_011532006.2:c.1405G>C	XP_011530308.1:p.Val469Leu
XM_011532007.1:c.1381G>C	XP_011530309.1:p.Val461Leu
XM_011532008.1:c.1225G>C	XP_011530310.1:p.Val409Leu
XM_011532009.1:c.988G>C	XP_011530311.1:p.Val330Leu
XM_024454067.1:c.1408G>C	XP_024309835.1:p.Val470Leu
XM_024454068.1:c.1384G>C	XP_024309836.1:p.Val462Leu
XM_024454069.1:c.1249G>C	XP_024309837.1:p.Val417Leu